ARID1B AT-rich interaction domain 1B

Gene info

Synonyms

KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5

Previous symbol

None

External ID

HGNC: 18040
Entrez Gene: 57492
Ensembl: ENSG00000049618
UCSC: uc003qqp.4
OMIM: 614556
UniProtKB: Q8NFD5

Disease info

CHD Phenotype

  • Mitral insufficiency
  • Patent foramen ovale
  • Atrial septal defect
  • Atrioventricular septal defect

Extra Cardiac Phenotype

None

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: no cardiovascular defect recorded

MGI ID

Variant info

Clinvar

Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

Download annotation file for ARID1B: BED file

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Selected References

  1. Wieczorek, D., Bögershausen, N., Beleggia, F., Steiner-Haldenstätt, S., Pohl, E., Li, Y., … Altmüller, J. (2013). A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Human Molecular Genetics, 22(25), 5121–5135. DOI:10.1093/hmg/ddt366 PMID:23906836
  2. Hoyer, J., Ekici, A. B., Endele, S., Popp, B., Zweier, C., Wiesener, A., … Reis, A. (2012). Haploinsufficiency of ARID1B , a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability. The American Journal of Human Genetics, 90(3), 565–572. DOI:10.1016/j.ajhg.2012.02.007 PMID:22405089
  3. Nagamani, S. C. S., Erez, A., Eng, C., Ou, Z., Chinault, C., Workman, L., … Cheung, S. W. (2008). Interstitial deletion of 6q25.2–q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss. European Journal of Human Genetics, 17(5), 573–581. DOI:10.1038/ejhg.2008.220 PMID:19034313
  4. Santen, G. W. E., Aten, E., Vulto-van Silfhout, A. T., Pottinger, C., van Bon, B. W. M., van Minderhout, I. J. H. M., … Linssen, M. M. L. (2013). Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients. Human Mutation, 34(11), 1519–1528. DOI:10.1002/humu.22394 PMID:23929686